Incidental Mutation 'R6326:Resf1'
ID |
510405 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Resf1
|
Ensembl Gene |
ENSMUSG00000032712 |
Gene Name |
retroelement silencing factor 1 |
Synonyms |
2810474O19Rik, GET |
MMRRC Submission |
044480-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6326 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
149210912-149237161 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 149230493 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 1180
(Y1180N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140026
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046689]
[ENSMUST00000100765]
[ENSMUST00000127680]
[ENSMUST00000130664]
[ENSMUST00000185930]
[ENSMUST00000187881]
[ENSMUST00000189837]
[ENSMUST00000189932]
[ENSMUST00000190785]
|
AlphaFold |
Q5DTW7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046689
AA Change: Y1180N
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000041180 Gene: ENSMUSG00000032712 AA Change: Y1180N
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100765
AA Change: Y1180N
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000098328 Gene: ENSMUSG00000032712 AA Change: Y1180N
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127680
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130664
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185930
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187881
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189837
AA Change: Y1180N
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000139660 Gene: ENSMUSG00000032712 AA Change: Y1180N
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189932
AA Change: Y1180N
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140026 Gene: ENSMUSG00000032712 AA Change: Y1180N
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190785
|
SMART Domains |
Protein: ENSMUSP00000139624 Gene: ENSMUSG00000032712
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1173 |
9.4e-255 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
A |
T |
7: 66,770,636 (GRCm39) |
Y915F |
probably benign |
Het |
Adap2 |
T |
A |
11: 80,045,848 (GRCm39) |
F43I |
probably damaging |
Het |
Adprs |
A |
T |
4: 126,210,406 (GRCm39) |
L358Q |
possibly damaging |
Het |
Akap9 |
A |
C |
5: 4,012,061 (GRCm39) |
Q921H |
probably damaging |
Het |
Amigo2 |
A |
G |
15: 97,143,256 (GRCm39) |
S389P |
probably benign |
Het |
Atg2b |
A |
T |
12: 105,627,351 (GRCm39) |
C545* |
probably null |
Het |
C2cd3 |
A |
G |
7: 100,065,635 (GRCm39) |
E807G |
probably benign |
Het |
Ccdc110 |
A |
G |
8: 46,395,078 (GRCm39) |
E323G |
probably damaging |
Het |
Cdk5rap2 |
T |
A |
4: 70,153,691 (GRCm39) |
S1711C |
probably damaging |
Het |
Cebpzos |
T |
G |
17: 79,226,486 (GRCm39) |
D39E |
probably damaging |
Het |
Cenpe |
A |
G |
3: 134,945,539 (GRCm39) |
N1018D |
probably benign |
Het |
Cfap68 |
T |
G |
9: 50,676,057 (GRCm39) |
N87T |
probably damaging |
Het |
Clspn |
C |
A |
4: 126,459,532 (GRCm39) |
H141Q |
probably damaging |
Het |
Cluh |
C |
T |
11: 74,557,068 (GRCm39) |
A1010V |
probably benign |
Het |
Col27a1 |
G |
T |
4: 63,242,678 (GRCm39) |
|
probably benign |
Het |
Cpt2 |
T |
C |
4: 107,771,513 (GRCm39) |
M61V |
probably benign |
Het |
Ddr2 |
T |
A |
1: 169,814,709 (GRCm39) |
H578L |
probably damaging |
Het |
Dnah14 |
T |
A |
1: 181,611,121 (GRCm39) |
I3749N |
probably damaging |
Het |
Dnajc18 |
T |
C |
18: 35,813,978 (GRCm39) |
T264A |
possibly damaging |
Het |
Ecpas |
T |
A |
4: 58,827,068 (GRCm39) |
T1022S |
probably benign |
Het |
Eml6 |
T |
C |
11: 29,769,066 (GRCm39) |
N693S |
probably damaging |
Het |
Ephx4 |
A |
G |
5: 107,553,977 (GRCm39) |
E9G |
probably damaging |
Het |
Eps15l1 |
G |
A |
8: 73,095,278 (GRCm39) |
Q747* |
probably null |
Het |
Flrt1 |
C |
T |
19: 7,073,974 (GRCm39) |
S191N |
probably damaging |
Het |
Gm5114 |
C |
T |
7: 39,057,579 (GRCm39) |
R680H |
probably benign |
Het |
Gm5431 |
T |
C |
11: 48,780,172 (GRCm39) |
H250R |
probably damaging |
Het |
Gm7233 |
T |
C |
14: 43,040,342 (GRCm39) |
C198R |
possibly damaging |
Het |
Herc2 |
C |
G |
7: 55,872,682 (GRCm39) |
Q4407E |
probably damaging |
Het |
Hmx3 |
C |
G |
7: 131,144,734 (GRCm39) |
|
probably benign |
Het |
Hoxb7 |
C |
A |
11: 96,177,909 (GRCm39) |
A119E |
probably benign |
Het |
Ifi207 |
A |
T |
1: 173,557,532 (GRCm39) |
M402K |
probably benign |
Het |
Ints14 |
T |
C |
9: 64,871,719 (GRCm39) |
V19A |
probably benign |
Het |
Itgae |
T |
A |
11: 73,022,519 (GRCm39) |
N911K |
possibly damaging |
Het |
Kif1a |
T |
C |
1: 93,004,048 (GRCm39) |
S145G |
probably damaging |
Het |
Klhdc4 |
A |
G |
8: 122,531,793 (GRCm39) |
W187R |
probably damaging |
Het |
Krt1 |
A |
T |
15: 101,758,684 (GRCm39) |
I160N |
probably damaging |
Het |
Krt12 |
T |
C |
11: 99,307,745 (GRCm39) |
T448A |
probably benign |
Het |
Lcmt2 |
G |
A |
2: 120,969,938 (GRCm39) |
R382* |
probably null |
Het |
Map3k8 |
C |
T |
18: 4,340,651 (GRCm39) |
S221N |
probably damaging |
Het |
Med17 |
T |
C |
9: 15,190,854 (GRCm39) |
D79G |
probably benign |
Het |
Mlf1 |
A |
T |
3: 67,307,060 (GRCm39) |
I257F |
probably damaging |
Het |
Mov10l1 |
T |
A |
15: 88,879,098 (GRCm39) |
F153I |
probably damaging |
Het |
Msto1 |
A |
C |
3: 88,819,405 (GRCm39) |
V149G |
probably damaging |
Het |
Mybl1 |
T |
C |
1: 9,748,732 (GRCm39) |
|
probably null |
Het |
Myoc |
A |
G |
1: 162,476,580 (GRCm39) |
Y428C |
probably damaging |
Het |
Nin |
A |
G |
12: 70,091,955 (GRCm39) |
S785P |
possibly damaging |
Het |
Oit3 |
A |
T |
10: 59,264,061 (GRCm39) |
F358I |
probably damaging |
Het |
Or5t15 |
C |
T |
2: 86,681,338 (GRCm39) |
V235I |
probably benign |
Het |
Or6c88 |
A |
G |
10: 129,406,571 (GRCm39) |
T16A |
possibly damaging |
Het |
Paip1 |
A |
G |
13: 119,566,753 (GRCm39) |
N29S |
probably benign |
Het |
Pcdhgb4 |
T |
C |
18: 37,855,509 (GRCm39) |
S635P |
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,280,298 (GRCm39) |
N708D |
possibly damaging |
Het |
Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
Prag1 |
A |
T |
8: 36,569,860 (GRCm39) |
M148L |
possibly damaging |
Het |
Ptch1 |
A |
G |
13: 63,691,359 (GRCm39) |
L176P |
probably damaging |
Het |
Ralgapa1 |
A |
T |
12: 55,793,931 (GRCm39) |
V568D |
probably damaging |
Het |
Rb1 |
A |
T |
14: 73,435,974 (GRCm39) |
M897K |
probably benign |
Het |
Robo3 |
T |
A |
9: 37,338,323 (GRCm39) |
Q386L |
probably damaging |
Het |
Rtn4rl1 |
T |
C |
11: 75,156,828 (GRCm39) |
V420A |
possibly damaging |
Het |
Sall1 |
A |
T |
8: 89,756,896 (GRCm39) |
N1069K |
probably benign |
Het |
Sipa1l1 |
A |
G |
12: 82,419,242 (GRCm39) |
E640G |
probably damaging |
Het |
Slc22a2 |
C |
A |
17: 12,831,297 (GRCm39) |
Y362* |
probably null |
Het |
Slc5a9 |
T |
C |
4: 111,737,450 (GRCm39) |
E603G |
probably benign |
Het |
Slc6a17 |
A |
T |
3: 107,407,722 (GRCm39) |
I83N |
probably damaging |
Het |
Snx29 |
G |
T |
16: 11,221,430 (GRCm39) |
M285I |
probably benign |
Het |
Spata2 |
T |
C |
2: 167,326,094 (GRCm39) |
T242A |
possibly damaging |
Het |
Stard13 |
A |
G |
5: 150,970,384 (GRCm39) |
L733P |
possibly damaging |
Het |
Svep1 |
A |
G |
4: 58,073,045 (GRCm39) |
V2088A |
possibly damaging |
Het |
Tdp2 |
A |
G |
13: 25,024,540 (GRCm39) |
E279G |
probably damaging |
Het |
Tnfrsf8 |
T |
G |
4: 144,995,794 (GRCm39) |
I422L |
probably damaging |
Het |
Tpk1 |
T |
A |
6: 43,323,736 (GRCm39) |
T189S |
possibly damaging |
Het |
Trhde |
A |
T |
10: 114,403,129 (GRCm39) |
M498K |
probably damaging |
Het |
Trim35 |
T |
A |
14: 66,540,653 (GRCm39) |
H168Q |
possibly damaging |
Het |
Tubb5 |
T |
C |
17: 36,147,347 (GRCm39) |
|
probably benign |
Het |
Tut4 |
C |
T |
4: 108,336,177 (GRCm39) |
T6I |
probably benign |
Het |
Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
Vmn2r77 |
G |
A |
7: 86,451,031 (GRCm39) |
G306R |
probably benign |
Het |
Xkr4 |
C |
T |
1: 3,741,261 (GRCm39) |
R104H |
possibly damaging |
Het |
Zfp398 |
T |
C |
6: 47,843,355 (GRCm39) |
I337T |
possibly damaging |
Het |
|
Other mutations in Resf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00767:Resf1
|
APN |
6 |
149,236,248 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01401:Resf1
|
APN |
6 |
149,228,394 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01461:Resf1
|
APN |
6 |
149,233,013 (GRCm39) |
unclassified |
probably benign |
|
IGL01610:Resf1
|
APN |
6 |
149,230,449 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02873:Resf1
|
APN |
6 |
149,228,538 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03202:Resf1
|
APN |
6 |
149,227,937 (GRCm39) |
missense |
probably benign |
0.08 |
grand_junction
|
UTSW |
6 |
149,229,376 (GRCm39) |
missense |
probably damaging |
0.98 |
grand_marais
|
UTSW |
6 |
149,227,958 (GRCm39) |
nonsense |
probably null |
|
3-1:Resf1
|
UTSW |
6 |
149,229,227 (GRCm39) |
missense |
probably damaging |
0.98 |
B6584:Resf1
|
UTSW |
6 |
149,230,844 (GRCm39) |
missense |
probably damaging |
0.96 |
PIT4280001:Resf1
|
UTSW |
6 |
149,227,023 (GRCm39) |
missense |
probably benign |
0.23 |
R0053:Resf1
|
UTSW |
6 |
149,229,088 (GRCm39) |
missense |
probably benign |
0.00 |
R0053:Resf1
|
UTSW |
6 |
149,229,088 (GRCm39) |
missense |
probably benign |
0.00 |
R0243:Resf1
|
UTSW |
6 |
149,227,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R0620:Resf1
|
UTSW |
6 |
149,229,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R0633:Resf1
|
UTSW |
6 |
149,227,199 (GRCm39) |
missense |
probably benign |
0.00 |
R0727:Resf1
|
UTSW |
6 |
149,227,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0904:Resf1
|
UTSW |
6 |
149,229,767 (GRCm39) |
missense |
probably damaging |
0.99 |
R1221:Resf1
|
UTSW |
6 |
149,227,719 (GRCm39) |
missense |
probably benign |
0.24 |
R1282:Resf1
|
UTSW |
6 |
149,230,670 (GRCm39) |
nonsense |
probably null |
|
R1435:Resf1
|
UTSW |
6 |
149,227,580 (GRCm39) |
missense |
probably benign |
0.04 |
R1452:Resf1
|
UTSW |
6 |
149,228,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R1587:Resf1
|
UTSW |
6 |
149,228,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R1912:Resf1
|
UTSW |
6 |
149,230,342 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1926:Resf1
|
UTSW |
6 |
149,230,902 (GRCm39) |
missense |
probably benign |
0.39 |
R1978:Resf1
|
UTSW |
6 |
149,227,930 (GRCm39) |
missense |
probably benign |
0.12 |
R2035:Resf1
|
UTSW |
6 |
149,230,724 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2136:Resf1
|
UTSW |
6 |
149,230,320 (GRCm39) |
missense |
probably benign |
0.01 |
R2333:Resf1
|
UTSW |
6 |
149,229,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R2360:Resf1
|
UTSW |
6 |
149,236,145 (GRCm39) |
missense |
probably benign |
0.05 |
R3027:Resf1
|
UTSW |
6 |
149,230,533 (GRCm39) |
missense |
probably benign |
0.02 |
R3121:Resf1
|
UTSW |
6 |
149,230,741 (GRCm39) |
nonsense |
probably null |
|
R3707:Resf1
|
UTSW |
6 |
149,230,611 (GRCm39) |
missense |
probably damaging |
0.98 |
R4204:Resf1
|
UTSW |
6 |
149,231,042 (GRCm39) |
nonsense |
probably null |
|
R4247:Resf1
|
UTSW |
6 |
149,227,041 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4249:Resf1
|
UTSW |
6 |
149,227,041 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4304:Resf1
|
UTSW |
6 |
149,227,736 (GRCm39) |
nonsense |
probably null |
|
R4385:Resf1
|
UTSW |
6 |
149,227,706 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4702:Resf1
|
UTSW |
6 |
149,230,901 (GRCm39) |
missense |
probably benign |
0.05 |
R4747:Resf1
|
UTSW |
6 |
149,228,392 (GRCm39) |
missense |
probably damaging |
0.96 |
R4912:Resf1
|
UTSW |
6 |
149,230,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R4913:Resf1
|
UTSW |
6 |
149,230,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R4965:Resf1
|
UTSW |
6 |
149,229,896 (GRCm39) |
nonsense |
probably null |
|
R4971:Resf1
|
UTSW |
6 |
149,227,097 (GRCm39) |
unclassified |
probably benign |
|
R5077:Resf1
|
UTSW |
6 |
149,227,528 (GRCm39) |
missense |
probably benign |
0.14 |
R5213:Resf1
|
UTSW |
6 |
149,227,551 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5382:Resf1
|
UTSW |
6 |
149,227,958 (GRCm39) |
nonsense |
probably null |
|
R5418:Resf1
|
UTSW |
6 |
149,227,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R5452:Resf1
|
UTSW |
6 |
149,230,611 (GRCm39) |
nonsense |
probably null |
|
R5498:Resf1
|
UTSW |
6 |
149,229,738 (GRCm39) |
missense |
probably damaging |
0.99 |
R5673:Resf1
|
UTSW |
6 |
149,229,491 (GRCm39) |
nonsense |
probably null |
|
R5690:Resf1
|
UTSW |
6 |
149,229,735 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5916:Resf1
|
UTSW |
6 |
149,228,076 (GRCm39) |
missense |
probably damaging |
0.99 |
R5917:Resf1
|
UTSW |
6 |
149,236,179 (GRCm39) |
missense |
probably damaging |
0.98 |
R6160:Resf1
|
UTSW |
6 |
149,233,005 (GRCm39) |
critical splice donor site |
probably null |
|
R6280:Resf1
|
UTSW |
6 |
149,228,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R6396:Resf1
|
UTSW |
6 |
149,229,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R6702:Resf1
|
UTSW |
6 |
149,229,376 (GRCm39) |
missense |
probably damaging |
0.98 |
R6972:Resf1
|
UTSW |
6 |
149,227,607 (GRCm39) |
missense |
probably damaging |
0.99 |
R7127:Resf1
|
UTSW |
6 |
149,229,443 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7168:Resf1
|
UTSW |
6 |
149,229,341 (GRCm39) |
missense |
probably benign |
|
R7316:Resf1
|
UTSW |
6 |
149,228,136 (GRCm39) |
missense |
probably damaging |
0.99 |
R7586:Resf1
|
UTSW |
6 |
149,228,291 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7719:Resf1
|
UTSW |
6 |
149,228,853 (GRCm39) |
missense |
probably benign |
|
R7751:Resf1
|
UTSW |
6 |
149,226,936 (GRCm39) |
start gained |
probably benign |
|
R8013:Resf1
|
UTSW |
6 |
149,230,368 (GRCm39) |
missense |
probably damaging |
0.96 |
R8358:Resf1
|
UTSW |
6 |
149,228,076 (GRCm39) |
missense |
probably damaging |
0.99 |
R8393:Resf1
|
UTSW |
6 |
149,229,998 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8968:Resf1
|
UTSW |
6 |
149,228,664 (GRCm39) |
missense |
probably damaging |
0.96 |
R8977:Resf1
|
UTSW |
6 |
149,229,906 (GRCm39) |
missense |
probably damaging |
0.99 |
R8981:Resf1
|
UTSW |
6 |
149,227,997 (GRCm39) |
missense |
probably benign |
0.06 |
R9106:Resf1
|
UTSW |
6 |
149,230,368 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9208:Resf1
|
UTSW |
6 |
149,228,027 (GRCm39) |
missense |
probably damaging |
0.99 |
R9294:Resf1
|
UTSW |
6 |
149,227,930 (GRCm39) |
missense |
probably benign |
0.12 |
R9352:Resf1
|
UTSW |
6 |
149,236,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R9361:Resf1
|
UTSW |
6 |
149,228,132 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9513:Resf1
|
UTSW |
6 |
149,229,793 (GRCm39) |
nonsense |
probably null |
|
R9566:Resf1
|
UTSW |
6 |
149,227,352 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9623:Resf1
|
UTSW |
6 |
149,226,965 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9689:Resf1
|
UTSW |
6 |
149,229,766 (GRCm39) |
nonsense |
probably null |
|
R9752:Resf1
|
UTSW |
6 |
149,228,068 (GRCm39) |
missense |
probably benign |
0.07 |
R9794:Resf1
|
UTSW |
6 |
149,228,239 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGGGTCCAGTAAAAGCACC -3'
(R):5'- GTTTCTGGAAGCATTATTCCCAG -3'
Sequencing Primer
(F):5'- TTGGGTCCAGTAAAAGCACCTATAG -3'
(R):5'- GCCGTTGTAAATATTCCTGCACTG -3'
|
Posted On |
2018-04-02 |